Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. | 13871358 | 1962 |
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|
G | 0.700 | CausalMutation | CLINVAR | Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. | 13983033 | 1963 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. | 13983033 | 1963 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. | 13983033 | 1963 |
|||
|
AT | 0.700 | CausalMutation | CLINVAR | Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. | 13983033 | 1963 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Pulmonary stenosis, café-au-lait spots, and dull intelligence. | 6025371 | 1967 |
|||
|
GC | 0.700 | CausalMutation | CLINVAR | Pulmonary stenosis, café-au-lait spots, and dull intelligence. | 6025371 | 1967 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. | 4386970 | 1968 |
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|
G | 0.700 | CausalMutation | CLINVAR | Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. | 4386970 | 1968 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. | 4386970 | 1968 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. | 4386970 | 1968 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. | 4386970 | 1968 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. | 4386970 | 1968 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Multiple lentigenes syndrome. | 5771505 | 1969 |
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|
T | 0.700 | CausalMutation | CLINVAR | Multiple lentigenes syndrome. | 5771505 | 1969 |
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|
C | 0.700 | CausalMutation | CLINVAR | Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect. | 5410571 | 1970 |